Linked Data
ClinVar Variation Id:
10721
dbSNP Id:
rs28935485
gnomAD v4:
X-101398534-G-C
PubMed:
PMID:1315715
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.101398534G>C , CM000685.2:g.101398534G>C | GRCh38 |
| NC_000023.10:g.100653522G>C , CM000685.1:g.100653522G>C | GRCh37 |
| NC_000023.9:g.100540178G>C | NCBI36 |
| NG_007119.1:g.14430C>G , LRG_672:g.14430C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000486121.7:c.*281C>G (GLA) | ENSP00000501124.2:n.*281C>G | |
| ENST00000674127.2:c.*338C>G (GLA) | ENSP00000501044.2:n.*338C>G | |
| ENST00000710365.1:c.910C>G (GLA) | ENSP00000518234.1:p.Gln304Glu | |
| ENST00000218516.4:c.835C>G (GLA) MANE Select | ENSP00000218516.4:p.Gln279Glu | |
| ENST00000466414.2:n.971C>G (GLA) | ||
| ENST00000468823.2:n.1987C>G (GLA) | ||
| ENST00000479445.2:n.1449C>G (GLA) | ||
| ENST00000480513.6:c.*143C>G (GLA) | ENSP00000497055.1:n.*143C>G | |
| ENST00000486121.6:c.880C>G (GLA) | ||
| ENST00000649178.1:c.958C>G (GLA) | ENSP00000498186.1:p.Gln320Glu | |
| ENST00000674127.1:c.935C>G (GLA) | ENSP00000501044.1:n.935C>G | |
| ENST00000674142.1:n.1139C>G (GLA) | ||
| ENST00000674634.2:c.835C>G (GLA) | ENSP00000502629.2:p.Gln279Glu | |
| ENST00000675592.1:c.801+251C>G (GLA) | ENSP00000502239.1:n.801+251C>G | |
| ENST00000675799.1:c.*360C>G (GLA) | ENSP00000502661.1:n.*360C>G | |
| ENST00000675968.1:n.3706C>G (GLA) | ||
| ENST00000676156.1:c.799C>G (GLA) | ENSP00000501730.1:p.Gln267Glu | |
| ENST00000676372.1:c.901C>G (GLA) | ENSP00000502805.1:n.901C>G | |
| ENST00000218516.3:c.835C>G (GLA) | ENSP00000218516.3:p.Gln279Glu | |
| ENST00000409170.3:c.300+3077G>C (RPL36A-HNRNPH2) | ENSP00000386655.4:n.300+3077G>C | |
| ENST00000409338.5:c.177+6712G>C (RPL36A-HNRNPH2) | ENSP00000386974.2:n.177+6712G>C | |
| ENST00000466414.1:n.161C>G (GLA) | ||
| ENST00000468823.1:n.601C>G (GLA) | ||
| ENST00000493905.6:c.*223C>G (GLA) | ENSP00000476935.1:n.*223C>G | |
| NM_000169.2:c.835C>G , LRG_672t1:c.835C>G (GLA) | NP_000160.1:p.Gln279Glu | |
| NM_001199973.1:c.408+3077G>C (RPL36A-HNRNPH2) | NP_001186902.1:n.408+3077G>C | |
| NM_001199974.1:c.285+6712G>C (RPL36A-HNRNPH2) | NP_001186903.1:n.285+6712G>C | |
| XR_938397.1:n.920C>G (GLA) | ||
| XR_938397.2:n.941C>G (GLA) | ||
| NM_001199973.2:c.300+3077G>C (RPL36A-HNRNPH2) | NP_001186902.2:n.300+3077G>C | |
| NM_001199974.2:c.177+6712G>C (RPL36A-HNRNPH2) | NP_001186903.2:n.177+6712G>C | |
| NM_000169.3:c.835C>G (GLA) MANE Select | NP_000160.1:p.Gln279Glu | |
| NR_164783.1:n.914C>G (GLA) |